CYP21A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital adrenal hyperplasia diagnostic test

  BIALLELIC, autosomal or pseudoautosomal

• Differences in sex development

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Congenital adrenal hypoplasia

• Extreme early-onset hypertension

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  0.83

• congenital adrenal hyperplasia

  0.56

• hereditary disease

  0.49

• Ehlers-Danlos syndrome due to tenascin-X deficiency

  0.40

• vesicoureteral reflux 8

  0.39

• classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

  0.37

• adrenal gland disorder

  0.37

• classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

  0.37

• congenital lipoid adrenal hyperplasia due to STAR deficency

  0.34

• allergic disease

  0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)